Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Pro577Ser (p.P577S), ENSG00000282278 c.1018-9C>T
(
ENST00000257290.10 )
PDGFRA p.Pro577Ser (p.P577S), ENSG00000282278 c.1018-9C>T ( ENST00000257290.10 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) AND Melanoma
- ClinVar Allele ID
- 363060
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.1729C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.1768C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347827.2:c.1729C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.1804C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.1729C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000423704
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs